ArticleNeurology2022
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 32% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy.Scientific reports · 2026Article
- Cranial placode differentiation defect in individuals born without a nose.Stem cell reports · 2026Article
- Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.Genome research · 2026Article
- Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy.bioRxiv : the preprint server for biology · 2026Article
- SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.European journal of human genetics : EJHG · 2025Article
- Congenital Nasal Bones Agenesis: Report of a Rare Malformation.Case reports in medicine · 2024Article
- DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.Science advances · 2023Article
- Facioscapulohumeral muscular dystrophy: the road to targeted therapies.Nature reviews. Neurology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 1 institution in 3 countries.
Payam MohasselFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0001-5313-9514
Ning ChangFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0003-2842-7658
Kaoru InoueFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0002-3615-6192
Angela DelaneyFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Ying HuFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Sandra DonkervoortFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Dimah SaadeFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
B Jeanne BilliouxFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Brooke MeaderFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Rita VolochayevFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Chamindra G KonersmanFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Angela M KaindlFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0001-9454-206X
Chie-Hee ChoFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0001-6717-2155
Bianca RussellFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0003-3934-9800
Adrian RodriguezFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
K Wade FosterFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
A Reghan FoleyFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0003-2168-1119
Steven A MooreFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0002-6353-7900
Peter L JonesFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Carsten G BonnemannFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.ORCID 0000-0002-5930-2324
Takako JonesFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Natalie D ShawFrom the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City. natalie.shaw@nih.gov.
University of Iowa · US
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MInvestigation of the genetic architecture and phenotypic spectrum of Bosma arhinia microphthalmia syndromeZIAES103327 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SHAW, NATALIE · 2017 to 2025
$15.5MMuscular Dystrophy Specialized Research Center: Project 2P50NS053672 · NINDS · UNIVERSITY OF IOWA · PI KEVIN P. CAMPBELL · 2020 to 2026
$11.9MMechanisms of DUX4 mediated FSHD pathologyR01AR062587 · NIAMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI JONES, PETER L · 2013 to 2024
$5.3MIntramural NIH HHS ZIA ES103327Intramural NIH HHS ZIA NS003129NIAMS NIH HHS R01 AR062587NINDS NIH HHS P50 NS053672
Abstract
BACKGROUND AND
objectivesFacioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene:
methodsEleven individuals with congenital nasal anomalies, including arhinia, nasal hypoplasia, or anosmia, underwent a neuromuscular examination, genetic testing, muscle ultrasound, and muscle MRI. Risk for FSHD2 was determined by combined genetic and epigenetic analysis of 4q35 haplotype, D4Z4 repeat length, and methylation profile. We also compared expression levels of pathogenic DUX4 mRNA in primary myoblasts or dermal fibroblasts (upon myogenic differentiation or epigenetic transdifferentiation, respectively) in these individuals vs those with confirmed FSHD2.
resultsAmong the 11 individuals with rare, pathogenic, heterozygous missense variants in exons 3-11 of DISCUSSION: In this cross-sectional study, we identified patients with arhinia who meet the full genetic and epigenetic criteria for FSHD2 and display the molecular hallmark of FSHD-
Indexed as
Chromosomal Proteins, Non-HistoneMuscular Dystrophy, FacioscapulohumeralCross-Sectional StudiesFemaleHomeodomain ProteinsHumansMalePhenotypeChromosomal Proteins, Non-HistoneHomeodomain ProteinsSMCHD1 protein, human
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